REFINED LOCALIZATION OF THE BRANCHIOOTORENAL SYNDROME GENE BY LINKAGE AND HAPLOTYPE ANALYSIS

被引:28
作者
NI, L
WAGNER, MJ
KIMBERLING, WJ
PEMBREY, ME
GRUNDFAST, KM
KUMAR, S
DAIGER, SP
WELLS, DE
JOHNSON, K
SMITH, RJH
机构
[1] UNIV IOWA, DEPT OTOLARYNGOL HEAD & NECK SURG, MOLEC OTOLARYNGOL RES LABS, IOWA CITY, IA 52242 USA
[2] UNIV HOUSTON, DEPT BIOL, HOUSTON, TX 77204 USA
[3] BOYS TOWN NATL RES HOSP, OMAHA, NE 68131 USA
[4] INST CHILD HLTH, LONDON, ENGLAND
[5] WASHINGTON CHILDRENS HOSP, WASHINGTON, DC USA
[6] UNIV TEXAS, HLTH SCI CTR, CTR GENET, DEPT GENET, HOUSTON, TX USA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 51卷 / 02期
关键词
D O I
10.1002/ajmg.1320510222
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Branchiootorenal (BOR) syndrome is a common autosomal dominant form of hearing impairment previously mapped to 8q. This report refines the localization of the BOR syndrome gene by haplotype analysis to the interval flanked by markers D8S553 and D8S286. By multipoint linkage analysis, the disease locus most likely is flanked by markers D8S530 and D8S279. (C) 1994 Wiley-Liss, Inc.
引用
收藏
页码:176 / 184
页数:9
相关论文
共 31 条
[11]  
CREMERS CWR, 1989, INT J PEDIATR OTOLAR, V2, P399
[12]   SEVERE RENAL DYSGENESIS PRODUCED BY A DOMINANT GENE [J].
FITCH, N ;
SROLOVITZ, H .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1976, 130 (12) :1356-1357
[13]   FREQUENCY OF THE BRANCHIO-OTO-RENAL (BOR) SYNDROME IN CHILDREN WITH PROFOUND HEARING-LOSS [J].
FRASER, FC ;
SPROULE, JR ;
HALAL, F .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 7 (03) :341-349
[14]   8Q24.12 INTERSTITIAL DELETION IN TRICHORHINOPHALANGEAL SYNDROME TYPE-I [J].
FRYNS, JP ;
VANDENBERGHE, H .
HUMAN GENETICS, 1986, 74 (02) :188-189
[15]   THE BOR SYNDROME AND RENAL AGENESIS PRENATAL-DIAGNOSIS AND FURTHER CLINICAL DELINEATION [J].
GREENBERG, CR ;
TREVENEN, CL ;
EVANS, JA .
PRENATAL DIAGNOSIS, 1988, 8 (02) :103-108
[16]   A SIMPLE AND EFFICIENT NON-ORGANIC PROCEDURE FOR THE ISOLATION OF GENOMIC DNA FROM BLOOD [J].
GRIMBERG, J ;
NAWOSCHIK, S ;
BELLUSCIO, L ;
MCKEE, R ;
TURCK, A ;
EISENBERG, A .
NUCLEIC ACIDS RESEARCH, 1989, 17 (20) :8390-8390
[17]   TRICHO-RHINO-PHALANGEAL AND BRANCHIO-OTO SYNDROMES IN A FAMILY WITH AN INHERITED REARRANGEMENT OF CHROMOSOME-8Q [J].
HAAN, EA ;
HULL, YJ ;
WHITE, S ;
COCKINGTON, R ;
CHARLTON, P ;
CALLEN, DF .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (04) :490-494
[18]  
Heusinger CF, 1864, VIRCHOWS ARCH PATH A, V29, P338
[19]   AUTOSOMAL DOMINANT BRANCHIOOTORENAL SYNDROME - LOCALIZATION OF A DISEASE GENE TO CHROMOSOME-8Q BY LINKAGE IN A DUTCH FAMILY [J].
KUMAR, S ;
KIMBERLING, WJ ;
KENYON, JB ;
SMITH, RJH ;
MARRES, HAM ;
CREMERS, CWRJ .
HUMAN MOLECULAR GENETICS, 1992, 1 (07) :491-495
[20]   STRATEGIES FOR MULTILOCUS LINKAGE ANALYSIS IN HUMANS [J].
LATHROP, GM ;
LALOUEL, JM ;
JULIER, C ;
OTT, J .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (11) :3443-3446